Incidental Mutation 'R7068:Rad1'
ID |
548703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad1
|
Ensembl Gene |
ENSMUSG00000022248 |
Gene Name |
RAD1 checkpoint DNA exonuclease |
Synonyms |
|
MMRRC Submission |
045164-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R7068 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
10486104-10499149 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 10490379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 85
(Y85*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128601
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022855]
[ENSMUST00000022856]
[ENSMUST00000100775]
[ENSMUST00000168408]
[ENSMUST00000168761]
[ENSMUST00000169050]
[ENSMUST00000169519]
[ENSMUST00000170100]
|
AlphaFold |
Q9QWZ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022855
|
SMART Domains |
Protein: ENSMUSP00000022855 Gene: ENSMUSG00000022247
Domain | Start | End | E-Value | Type |
Brix
|
63 |
243 |
3.62e-58 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000022856
AA Change: Y115*
|
SMART Domains |
Protein: ENSMUSP00000022856 Gene: ENSMUSG00000022248 AA Change: Y115*
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
257 |
2.2e-85 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100775
AA Change: Y115*
|
SMART Domains |
Protein: ENSMUSP00000098338 Gene: ENSMUSG00000022248 AA Change: Y115*
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
235 |
5.5e-69 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168408
|
SMART Domains |
Protein: ENSMUSP00000132747 Gene: ENSMUSG00000022248
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
67 |
1.7e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168761
|
SMART Domains |
Protein: ENSMUSP00000130602 Gene: ENSMUSG00000022247
Domain | Start | End | E-Value | Type |
Blast:Brix
|
10 |
51 |
5e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169050
|
SMART Domains |
Protein: ENSMUSP00000127437 Gene: ENSMUSG00000022247
Domain | Start | End | E-Value | Type |
Pfam:Brix
|
72 |
154 |
8.8e-19 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169519
AA Change: Y115*
|
SMART Domains |
Protein: ENSMUSP00000126645 Gene: ENSMUSG00000022248 AA Change: Y115*
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
133 |
9e-36 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170100
AA Change: Y85*
|
SMART Domains |
Protein: ENSMUSP00000128601 Gene: ENSMUSG00000022248 AA Change: Y85*
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
1 |
161 |
1.3e-51 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009] PHENOTYPE: Mice homozygous for a knock-in allele exhibit normal B cell DNA damage sensitivity, somatic hypermutation, and class switch recombination. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
A |
G |
7: 119,221,803 (GRCm39) |
H24R |
probably benign |
Het |
Ago2 |
A |
T |
15: 73,018,299 (GRCm39) |
F46L |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 15,008,639 (GRCm39) |
F546L |
probably damaging |
Het |
Asic2 |
G |
A |
11: 81,043,081 (GRCm39) |
H71Y |
probably benign |
Het |
Asphd1 |
A |
G |
7: 126,547,850 (GRCm39) |
V151A |
probably benign |
Het |
Best3 |
T |
C |
10: 116,824,543 (GRCm39) |
V3A |
probably damaging |
Het |
C4b |
A |
G |
17: 34,952,451 (GRCm39) |
L1196P |
probably damaging |
Het |
Cd22 |
A |
G |
7: 30,577,504 (GRCm39) |
V3A |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,902,154 (GRCm39) |
|
probably null |
Het |
Clcnka |
A |
T |
4: 141,114,421 (GRCm39) |
V631E |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,229,205 (GRCm39) |
V1961A |
possibly damaging |
Het |
Dnah14 |
A |
G |
1: 181,597,355 (GRCm39) |
E3559G |
probably benign |
Het |
Emsy |
A |
T |
7: 98,259,968 (GRCm39) |
D39E |
probably benign |
Het |
Fbxl16 |
G |
T |
17: 26,038,485 (GRCm39) |
V477F |
possibly damaging |
Het |
Flt1 |
A |
T |
5: 147,610,444 (GRCm39) |
I393N |
probably damaging |
Het |
Gabra4 |
A |
T |
5: 71,729,402 (GRCm39) |
N433K |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Ghsr |
T |
A |
3: 27,425,986 (GRCm39) |
V14D |
probably benign |
Het |
Glb1l |
A |
G |
1: 75,179,381 (GRCm39) |
Y183H |
probably damaging |
Het |
Hycc1 |
A |
G |
5: 24,169,793 (GRCm39) |
S519P |
possibly damaging |
Het |
Ighv3-4 |
T |
C |
12: 114,217,274 (GRCm39) |
T106A |
probably damaging |
Het |
Ik |
T |
G |
18: 36,888,518 (GRCm39) |
F439V |
possibly damaging |
Het |
Itih5 |
T |
C |
2: 10,254,115 (GRCm39) |
S789P |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,511,965 (GRCm39) |
D214G |
probably damaging |
Het |
Kdm5a |
C |
A |
6: 120,407,176 (GRCm39) |
H1464N |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,683 (GRCm39) |
Y671F |
probably damaging |
Het |
Kremen2 |
C |
A |
17: 23,960,859 (GRCm39) |
R421L |
possibly damaging |
Het |
Mroh9 |
T |
A |
1: 162,866,750 (GRCm39) |
D662V |
probably damaging |
Het |
Mtmr12 |
T |
G |
15: 12,257,756 (GRCm39) |
M278R |
probably null |
Het |
Ndufa8 |
T |
C |
2: 35,934,447 (GRCm39) |
M44V |
possibly damaging |
Het |
Nedd4l |
A |
T |
18: 65,338,722 (GRCm39) |
R695S |
probably damaging |
Het |
Nuf2 |
G |
A |
1: 169,349,988 (GRCm39) |
P97S |
probably damaging |
Het |
Or14c46 |
A |
C |
7: 85,918,745 (GRCm39) |
L84R |
probably damaging |
Het |
Or2ah1 |
T |
C |
2: 85,653,396 (GRCm39) |
V27A |
probably benign |
Het |
Or5ac24 |
T |
C |
16: 59,165,567 (GRCm39) |
T166A |
possibly damaging |
Het |
P4ha2 |
A |
G |
11: 54,001,820 (GRCm39) |
T33A |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,416,233 (GRCm39) |
H544R |
probably damaging |
Het |
Plec |
A |
G |
15: 76,061,969 (GRCm39) |
L2678P |
probably damaging |
Het |
Sema6d |
A |
G |
2: 124,499,741 (GRCm39) |
I309V |
probably benign |
Het |
Skint2 |
T |
C |
4: 112,481,548 (GRCm39) |
V137A |
probably damaging |
Het |
Slc23a3 |
T |
C |
1: 75,109,877 (GRCm39) |
N130S |
probably benign |
Het |
Slc35f1 |
T |
C |
10: 52,938,596 (GRCm39) |
F176S |
probably damaging |
Het |
Slc44a2 |
T |
A |
9: 21,232,144 (GRCm39) |
Y10N |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 110,014,952 (GRCm39) |
T506A |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,694,087 (GRCm39) |
S1219R |
probably benign |
Het |
Smco1 |
A |
G |
16: 32,092,929 (GRCm39) |
N200S |
probably benign |
Het |
Srcap |
A |
G |
7: 127,141,115 (GRCm39) |
T1571A |
probably benign |
Het |
Strip2 |
C |
T |
6: 29,932,207 (GRCm39) |
T459I |
probably benign |
Het |
Tarbp1 |
C |
T |
8: 127,153,773 (GRCm39) |
A1560T |
probably damaging |
Het |
Tcl1b1 |
T |
A |
12: 105,125,952 (GRCm39) |
|
probably benign |
Het |
Tdrd5 |
T |
C |
1: 156,111,841 (GRCm39) |
E436G |
probably damaging |
Het |
Trim31 |
T |
A |
17: 37,209,408 (GRCm39) |
C55S |
probably damaging |
Het |
Tsr1 |
G |
T |
11: 74,794,745 (GRCm39) |
E467* |
probably null |
Het |
Tulp4 |
T |
A |
17: 6,235,564 (GRCm39) |
D178E |
probably damaging |
Het |
Vmn1r30 |
A |
G |
6: 58,411,995 (GRCm39) |
V279A |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,285,575 (GRCm39) |
R132G |
probably benign |
Het |
|
Other mutations in Rad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Rad1
|
APN |
15 |
10,490,495 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01536:Rad1
|
APN |
15 |
10,493,286 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01544:Rad1
|
APN |
15 |
10,490,465 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02058:Rad1
|
APN |
15 |
10,493,361 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02368:Rad1
|
APN |
15 |
10,493,337 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02793:Rad1
|
APN |
15 |
10,493,365 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02875:Rad1
|
APN |
15 |
10,493,365 (GRCm39) |
missense |
probably benign |
0.00 |
R0271:Rad1
|
UTSW |
15 |
10,490,543 (GRCm39) |
splice site |
probably null |
|
R1874:Rad1
|
UTSW |
15 |
10,488,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Rad1
|
UTSW |
15 |
10,486,721 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2318:Rad1
|
UTSW |
15 |
10,490,495 (GRCm39) |
missense |
probably benign |
0.06 |
R2369:Rad1
|
UTSW |
15 |
10,486,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R2875:Rad1
|
UTSW |
15 |
10,490,417 (GRCm39) |
missense |
probably benign |
0.09 |
R2876:Rad1
|
UTSW |
15 |
10,490,417 (GRCm39) |
missense |
probably benign |
0.09 |
R2915:Rad1
|
UTSW |
15 |
10,486,728 (GRCm39) |
missense |
probably damaging |
0.99 |
R3721:Rad1
|
UTSW |
15 |
10,488,112 (GRCm39) |
missense |
probably benign |
0.00 |
R4754:Rad1
|
UTSW |
15 |
10,493,212 (GRCm39) |
intron |
probably benign |
|
R4931:Rad1
|
UTSW |
15 |
10,492,848 (GRCm39) |
intron |
probably benign |
|
R5274:Rad1
|
UTSW |
15 |
10,488,059 (GRCm39) |
splice site |
probably null |
|
R5640:Rad1
|
UTSW |
15 |
10,496,009 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5885:Rad1
|
UTSW |
15 |
10,488,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Rad1
|
UTSW |
15 |
10,488,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R6341:Rad1
|
UTSW |
15 |
10,492,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R6420:Rad1
|
UTSW |
15 |
10,488,098 (GRCm39) |
missense |
probably benign |
0.00 |
R7205:Rad1
|
UTSW |
15 |
10,493,343 (GRCm39) |
missense |
probably benign |
0.00 |
R7312:Rad1
|
UTSW |
15 |
10,493,367 (GRCm39) |
missense |
probably benign |
0.00 |
R7817:Rad1
|
UTSW |
15 |
10,493,404 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCCAGACAGGATTGATTTTC -3'
(R):5'- GTCCAGCTCAGAAAAGGCTTC -3'
Sequencing Primer
(F):5'- GCCAGACAGGATTGATTTTCTCCTG -3'
(R):5'- CTCAGAAAAGGCTTCCCGGAG -3'
|
Posted On |
2019-05-13 |